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Gaucher Disease. By: Melissa Sanders. What is it?. Gaucher disease is a rare genetic disorder where a person lacks an enzyme called glucocerebrosidase . Not having this enzyme causes harmful substances to build up in the liver, spleen, bones and bone marrow. - PowerPoint PPT Presentation

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Gaucher Disease

Gaucher DiseaseBy: Melissa Sanders

What is it?Gaucher disease is a rare genetic disorder where a person lacks an enzyme called glucocerebrosidase. Not having this enzyme causes harmful substances to build up in the liver, spleen, bones and bone marrow. These substances prevent the organs and cells from working properly.Three subtypes of GaucherType 1. Most common. Involves bone disease, anemia. Affects children and adults. Popular in Ashkenazi Jewish population.Type 2. Begins in infancy with severe neurologic involvement. Leads to rapid, early death.Type 3. Cause liver, spleen and brain problems. Patients live into adulthood.SymptomsBone pain and fracturesCognitive impairmentEasy bruisingEnlarged spleen, liverFatigueHeart valve problemsLung diseaseSeizuresSevere swelling at birthSkin changes

InheritanceGaucher is a recessive disease. This means that the mother and father must both pass one abnormal copy of the gene to the child in order for the child to develop the disease.

Coping with GaucherWide variety of physical, emotional and social challenges.

Managing PainFighting FatigueAddressing ApperanceTreatment and PreventionEnzyme replacement therapy availableBone marrow transplant needed in severe cases

Genetic counseling is recommended for possible parents with a family history of Gaucher.Testing determines if parents carry gene to pass on diseasePrenatal test can tell if fetus has Gaucher

Enzyme Replacement Therpy

Bone Marrow Transplant NeedlePrognosis with Gaucher

How well a person does depends on subtype.

Infantile Gaucher disease may lead to early death. Most affected children die before age 5

Adults with Type 1 can expect normal life expectancy with enzyme replacement therapyPain ManagementPain associated with type 1 Gaucher disease can go from minimal to severe. At worst, bone pain can limit normal activities, small movements are painful, sleep is difficult and may force individual to undergo hospitalization.Lifestyle changes may be necessary to minimize pain.

Fighting FatigueFatigue results from anemia and an enlarged liver or spleen. Severe anemic will feel tired even after full night of sleep. Ordinary activities require more effort but most find they can engage in normal activities if they pace themselves and plan accordingly.

CureNo known cure for Gaucher disease. Treatment for Type 2 and 3 Gaucher is enzyme replacement theapy or bone marrow transplantType 1 Gaucher disease has no known cure or treatment.Addressing AppearanceBody image can be difficult for people with an enlarged spleen or liver. Being smaller in stature is also a common concern.Children and adults may be teased or ridiculed for looking fat, pregnant or different.

Organizations www.gauchercare.com/patient/living.aspxwww.ncbi.nlm.nih.gov/pubmed/20635362www.investmentguide.co.uk/gaucher/living.htmwww.childrensgaucher.org/.../living-with-gaucher-disease-valerie-yanniaswww.bioscrip.com/default.aspx?tabid=253

Stain of three patientsPatient two and three are normal individualsPatient one has this extra band. Gene believed to carry Gaucher diseaseBiohttp://www.mayoclinic.com/health/gauchers-disease/DS00972/DSECTION=treatments-and-drugswww.ncbi.nlm.nih.govwww.mayoclinic.com/health/gauchers-disease/DS00972

www.medicinenet.com home gaucher disease index

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